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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Human disease related genes Metabolic proteins Potential drug targets Transporters
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
9
Cytoband
q21.11
Chromosome location (bp)
69035751 - 69079076
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
[Frataxin mature form]: Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly 1,2. Accelerates sulfur transfer from NFS1 persulfide intermediate to ISCU and to small thiols such as L-cysteine and glutathione leading to persulfuration of these thiols and ultimately sulfide release 3. Binds ferrous ion and is released from FXN upon the addition of both L-cysteine and reduced FDX2 during [2Fe-2S] cluster assembly 4. The core iron-sulfur cluster (ISC) assembly complex is involved in the de novo synthesis of a [2Fe-2S] cluster, the first step of the mitochondrial iron-sulfur protein biogenesis. This process is initiated by the cysteine desulfurase complex (NFS1:LYRM4:NDUFAB1) that produces persulfide which is delivered on the scaffold protein ISCU in a FXN-dependent manner. Then this complex is stabilized by FDX2 which provides reducing equivalents to accomplish the [2Fe-2S] cluster assembly. Finally, the [2Fe-2S] cluster is transferred from ISCU to chaperone proteins, including HSCB, HSPA9 and GLRX5 (By similarity). May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity 5. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems 6,7. May function as an iron chaperone protein that protects the aconitase [4Fe-4S]2+ cluster from disassembly and promotes enzyme reactivation 8. May play a role as a high affinity iron binding partner for FECH that is capable of both delivering iron to ferrochelatase and mediating the terminal step in mitochondrial heme biosynthesis 9,10....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Oxidoreductase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Heme biosynthesis, Ion transport, Iron storage, Iron transport, Transport
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Iron, Metal-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
Q16595 [Direct mapping] Frataxin, mitochondrial Frataxin intermediate form Frataxin(56-210) Frataxin(78-210) Frataxin mature form
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Enzymes ENZYME proteins Oxidoreductases Metabolic proteins Transporters Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004322[ferroxidase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006783[heme biosynthetic process] GO:0006811[ion transport] GO:0006879[cellular iron ion homeostasis] GO:0008198[ferrous iron binding] GO:0008199[ferric iron binding] GO:0008284[positive regulation of cell population proliferation] GO:0010039[response to iron ion] GO:0010722[regulation of ferrochelatase activity] GO:0016226[iron-sulfur cluster assembly] GO:0016491[oxidoreductase activity] GO:0016540[protein autoprocessing] GO:0018283[iron incorporation into metallo-sulfur cluster] GO:0030307[positive regulation of cell growth] GO:0034986[iron chaperone activity] GO:0043066[negative regulation of apoptotic process] GO:0043085[positive regulation of catalytic activity] GO:0044571[[2Fe-2S] cluster assembly] GO:0044572[[4Fe-4S] cluster assembly] GO:0046872[metal ion binding] GO:0051349[positive regulation of lyase activity] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0055072[iron ion homeostasis] GO:0070301[cellular response to hydrogen peroxide] GO:0090201[negative regulation of release of cytochrome c from mitochondria] GO:0099128[mitochondrial iron-sulfur cluster assembly complex] GO:1904231[positive regulation of succinate dehydrogenase activity] GO:1904234[positive regulation of aconitate hydratase activity] GO:1990221[L-cysteine desulfurase complex] GO:1990229[iron-sulfur cluster assembly complex]
Enzymes ENZYME proteins Oxidoreductases Metabolic proteins Transporters Phobius predicted secreted proteins SPOCTOPUS predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Human disease related genes Nervous system diseases Neurodegenerative diseases Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0004322[ferroxidase activity] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005759[mitochondrial matrix] GO:0005829[cytosol] GO:0006119[oxidative phosphorylation] GO:0006783[heme biosynthetic process] GO:0006811[ion transport] GO:0006879[cellular iron ion homeostasis] GO:0007005[mitochondrion organization] GO:0007628[adult walking behavior] GO:0008198[ferrous iron binding] GO:0008199[ferric iron binding] GO:0008284[positive regulation of cell population proliferation] GO:0009060[aerobic respiration] GO:0009792[embryo development ending in birth or egg hatching] GO:0010039[response to iron ion] GO:0010722[regulation of ferrochelatase activity] GO:0016226[iron-sulfur cluster assembly] GO:0016491[oxidoreductase activity] GO:0016540[protein autoprocessing] GO:0018283[iron incorporation into metallo-sulfur cluster] GO:0019230[proprioception] GO:0030307[positive regulation of cell growth] GO:0034986[iron chaperone activity] GO:0035265[organ growth] GO:0040015[negative regulation of multicellular organism growth] GO:0043066[negative regulation of apoptotic process] GO:0043085[positive regulation of catalytic activity] GO:0044571[[2Fe-2S] cluster assembly] GO:0044572[[4Fe-4S] cluster assembly] GO:0046621[negative regulation of organ growth] GO:0046716[muscle cell cellular homeostasis] GO:0046872[metal ion binding] GO:0051349[positive regulation of lyase activity] GO:0051537[2 iron, 2 sulfur cluster binding] GO:0055072[iron ion homeostasis] GO:0070301[cellular response to hydrogen peroxide] GO:0090201[negative regulation of release of cytochrome c from mitochondria] GO:0099128[mitochondrial iron-sulfur cluster assembly complex] GO:1904231[positive regulation of succinate dehydrogenase activity] GO:1904234[positive regulation of aconitate hydratase activity] GO:1990221[L-cysteine desulfurase complex] GO:1990229[iron-sulfur cluster assembly complex]
Metabolic proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Human disease related genes Nervous system diseases Neurodegenerative diseases Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
